Article
Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery.
EBioMedicine - 1 Jul 2022
Oliver Karen L, Ellis Colin A, Scheffer Ingrid E, Ganesan Shiva, Leu Costin, Sadleir Lynette G, Heinzen Erin L, Mefford Heather C, Bass Andrew J, Curtis Sarah W, Harris Rebekah V, Whiteman David C, Helbig Ingo, Ottman Ruth, Epstein Michael P, Bahlo Melanie, Berkovic Samuel F
Abstract excerpt
BACKGROUND: The epilepsies are highly heritable conditions that commonly follow complex inheritance. While monogenic causes have been identified in rare familial epilepsies, most familial epilepsies remain unsolved. We aimed to determine (1) whether common genetic variation contributes to familial epilepsy risk, and (2) whether that genetic risk is enriched in familial compared with non-familial (sporadic)...
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